A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414



Internal ID15487813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16680921..16724621hg38UCSC Ensembl
Outerchr1:16680361..16725524hg38UCSC Ensembl
Innerchr1:17007416..17051116hg19UCSC Ensembl
Outerchr1:17006856..17052019hg19UCSC Ensembl
Innerchr1:16880003..16923703hg18UCSC Ensembl
Outerchr1:16879443..16924606hg18UCSC Ensembl
Innerchr1:16752722..16796422hg17UCSC Ensembl
Outerchr1:16752162..16797325hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3845164
hg1945164
hg1845164
hg1745164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18517
Known GenesESPNP, MIR3675
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv14414
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer